ORCID Profile
0000-0001-7134-8037
Current Organisations
Universidade de Lisboa
,
Instituto Gulbenkian de Ciencia
,
Instituto Nacional de Saúde Dr Ricardo Jorge
,
Biosystems and Integrative Sciences Institute
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Publications
Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies
Publisher: Elsevier BV
Date: 05-2010
DOI: 10.1016/J.NEULET.2010.03.035
Abstract: Oxytocin (OXT) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. It is postulated that OXT reduces activation of the amygdala, inhibiting social anxiety, indicating a neural mechanism for the effects of OXT in social cognition. Genetic variation at the oxytocin receptor gene (OXTR) has been reported to be associated with autism. We examined 18 SNPs at the OXTR gene for association in three independent autism s les from Ireland, Portugal and the United Kingdom. We investigated cis-acting genetic effects on OXTR expression in lymphocytes and amygdala region of the brain using an allelic expression imbalance (AEI) assay and by investigating the correlation between RNA levels and genotype in the amygdala region. No marker survived multiple correction for association with autism in any s le or in a combined s le (n=436). Results from the AEI assay performed in the lymphoblast cell lines highlighted two SNPs associated with relative allelic abundance in OXTR (rs237897 and rs237895). Two SNPs were found to be effecting cis-acting variation through AEI in the amygdala. One was weakly correlated with total gene expression (rs13316193) and the other was highlighted in the lymphoblast cell lines (rs237895). Data presented here does not support the role of common genetic variation in OXTR in the aetiology of autism spectrum disorders in Caucasian s les.
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Publisher: Springer Science and Business Media LLC
Date: 22-05-2017
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
Publisher: Springer Science and Business Media LLC
Date: 13-06-2014
DOI: 10.1038/NCOMMS5074
Abstract: Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects ( P ≤2.40E−09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched ( P ≤3.83E−23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network ( P ≤4.16E−04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions.
CNVs leading to fusion transcripts in individuals with autism spectrum disorder
Publisher: Springer Science and Business Media LLC
Date: 02-05-2012
DOI: 10.1038/EJHG.2012.73
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses
Publisher: Springer Science and Business Media LLC
Date: 2014
Low-frequency and common genetic variation in ischemic stroke
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 02-03-2016
Analysis of shared heritability in common disorders of the brain
Publisher: American Association for the Advancement of Science (AAAS)
Date: 22-06-2018
Abstract: Consistent classification of neuropsychiatric diseases is problematic because it can lead to misunderstanding of etiology. The Brainstorm Consortium examined multiple genome-wide association studies drawn from more than 200,000 patients for 25 brain-associated disorders and 17 phenotypes. Broadly, it appears that psychiatric and neurologic disorders share relatively little common genetic risk. However, different and independent pathways can result in similar clinical manifestations (e.g., psychosis, which occurs in both schizophrenia and Alzheimer's disease). Schizophrenia correlated with many psychiatric disorders, whereas the immunopathological affliction Crohn's disease did not, and posttraumatic stress syndrome was also largely independent of underlying traits. Essentially, the earlier the onset of a disorder, the more inheritable it appeared to be. Science , this issue p. eaap8757
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Publisher: Springer Science and Business Media LLC
Date: 14-10-2011
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Publisher: Springer Science and Business Media LLC
Date: 09-01-2008
Abstract: Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5 )(q34 q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Publisher: Springer Science and Business Media LLC
Date: 15-05-2017
DOI: 10.1038/NG.3863
Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data
Publisher: BMJ
Date: 10-07-2014
DOI: 10.1136/BMJ.G4164
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Publisher: Springer Science and Business Media LLC
Date: 11-08-2202
DOI: 10.1038/NG.2711
Related Organisations
Related Funding Activities
No related grants have been discovered for Astrid Vicente.